primary ovarian insufficiency 11

Summary

DOID:0080868 - primary ovarian insufficiency 11

Disease Ontology Definition:A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ercc6

MIM:

MIM:616946 - PREMATURE OVARIAN FAILURE 11; POF11

MIM:616946 - PREMATURE OVARIAN FAILURE 11; POF11

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), primary ovarian insufficiency (is_a)